【摘要】：目的:對廣西壯族正常人群的脊髓小腦性共濟失調(diào)(SCA)常見3種亞型(SCA1,SCA2,SCA3)致病基因的三核苷酸CAG重復次數(shù)進行檢測和分析,探討其CAG重復數(shù)的正常變異范圍。方法:采集廣西壯族正常人群的外周抗凝血485份,提取全血基因組DNA做PCR模板,利用聚合酶鏈式反應及高效毛細管電泳片段分析等技術,測定不同基因型片段長度,部分標本測序驗證,統(tǒng)計分析廣西壯族正常人群SCA1,SCA2,SCA3基因三核苷酸CAG重復數(shù)。結果:在研究壯族群體中SCA1基因CAG重復數(shù)為13-34次,并集中在26次,發(fā)現(xiàn)17種重復次數(shù);SCA2基因CAG重復數(shù)為20~33次,最常見為20次,發(fā)現(xiàn)11種重復次數(shù);SCA3基因CAG重復數(shù)為6-38次,集中在14,19,22,27,28次,同時發(fā)現(xiàn)25種重復次數(shù)。結論:1.廣西壯族正常人群脊髓小腦性共濟失調(diào)亞型SCA1、SCA2、SCA3基因的CAG三核苷酸重復數(shù)范圍分別為13-34次、17-33次,6-38次。所檢測出SCA3基因CAG最小重復數(shù)為6次,為目前研究正常人群SCA3基因CAG重復數(shù)報道的最小值。2.SCA1/2/3亞型基因的CAG重復序列在廣西壯族正常人群中呈現(xiàn)多態(tài)性,本研究補充和豐富了我國少數(shù)民族SCA常見亞型CAG三核苷酸正常重復數(shù)范圍的數(shù)據(jù)。
[Abstract]:Objective: to detect and analyze the number of trinucleotide CAG repeats of the three common subtypes of (SCA) (SCA1, SCA2, SCA3) in normal subjects of Zhuang nationality in Guangxi, and to explore the range of normal variation of CAG repeats. Methods: a total of 485 samples of peripheral anticoagulant blood were collected from Zhuang nationality in Guangxi. Genomic DNA was extracted from the whole blood as PCR template. Polymerase chain reaction (PCR) and high performance capillary electrophoresis (HPCE) were used to determine the length of different genotypes. Some samples were sequenced and the CAG repeats of SCA1, SCA2, SCA3 gene were analyzed statistically. Results: the number of CAG repeats of SCA1 gene was 13-34 and 26 times in Zhuang population. The results showed that the number of CAG repeats of 17 kinds of repeats was 20 times, the most common was 20 repeats, and the number of CAG repeats of 11 kinds of repeats was 6-38 times. At the same time, 25 repetition times were found. Conclusion 1. The CAG trinucleotide repeats of SCA1, SCA2, SCA3 gene in normal subjects of Zhuang nationality in Guangxi were 13-34 times, 17-33 times, 6-38 times, respectively. The minimum number of CAG repeats of SCA3 gene was 6, which was the lowest reported number of CAG repeats of SCA3 gene in normal population. 2. The CAG repeats of SCA1 / 2 / 3 subtype gene were polymorphic in the normal population of Guangxi Zhuang nationality. This study complements and enriches the normal range of CAG trinucleotide repeats of common subtypes of SCA in ethnic minorities in China.
【學位授予單位】：廣西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2017
【分類號】：R744.7

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